CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
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10 mars 2022
- doi: 10.1093/bib/bbac049
- issn: 1467-5463
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Instruction and study--Methods Geographic atlases Atlases, Geographic Vocational guidance--Religious aspects Calling Visualisation Theme with variations Theme and variations Musical variations Processing, Signal Clinical sciences Medical profession Clinical genetics Diseases--Genetic aspects Heredity of disease Plans Pattern Model Deoxyribonucleic acid TNA (Nucleic acid) Desoxyribonucleic acid Thymonucleic acid Instruction and study--Methods Genomic characterization, Comparative CGH (Comparative genomic hybridization) Methods of analysis Analysis and chemistry Analytical methods Chemical analysis Analysis methods Analysis and examination nucléusCiter ce document
M. Rapti et al., « CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications. », Serveur académique Lausannois, ID : 10.1093/bib/bbac049
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Résumé
CoverageMaster (CoM) is a copy number variation (CNV) calling algorithm based on depth-of-coverage maps designed to detect CNVs of any size in exome [whole exome sequencing (WES)] and genome [whole genome sequencing (WGS)] data. The core of the algorithm is the compression of sequencing coverage data in a multiscale Wavelet space and the analysis through an iterative Hidden Markov Model. CoM processes WES and WGS data at nucleotide scale resolution and accurately detects and visualizes full size range CNVs, including single or partial exon deletions and duplications. The results obtained with this approach support the possibility for coverage-based CNV callers to replace probe-based methods such as array comparative genomic hybridization and multiplex ligation-dependent probe amplification in the near future.